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    TBX21 T-box transcription factor 21 [ Homo sapiens (human) ]

    Gene ID: 30009, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TBX21provided by HGNC
    Official Full Name
    T-box transcription factor 21provided by HGNC
    Primary source
    HGNC:HGNC:11599
    See related
    Ensembl:ENSG00000073861 MIM:604895; AllianceGenome:HGNC:11599
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TBET; IMD88; T-PET; T-bet; TBLYM
    Summary
    This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in spleen (RPKM 4.5), bone marrow (RPKM 4.1) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBX21 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47733236..47746122)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48595046..48607933)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45810602..45823488)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12314 Neighboring gene karyopherin subunit beta 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45771282-45771962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45771963-45772642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45772643-45773323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8638 Neighboring gene TBK1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791473-45791974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791975-45792474 Neighboring gene TBX21 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45855331-45855844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45866576-45867378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45867379-45868179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45885766-45886266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45886267-45886767 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45899123-45899338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12317 Neighboring gene oxysterol binding protein like 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45907489-45908320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45908321-45909150 Neighboring gene mitochondrial ribosomal protein L10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A 3'-untranslated region polymorphism in the TBX21 gene encoding T-bet is a risk factor for genital herpes simplex virus type 2 infection in humans. Svensson A, et al. J Gen Virol, 2008 Sep. PMID 18753235
    2. The mutations of Th1 cell-specific T-box transcription factor may be associated with a predominant Th2 phenotype in gastric cancers. Yang P, et al. Int J Immunogenet, 2010 Apr. PMID 20193034
    3. Integration of distinct intracellular signaling pathways at distal regulatory elements directs T-bet expression in human CD4+ T cells. Placek K, et al. J Immunol, 2009 Dec 15. PMID 19923468
    4. Ectopic T-bet expression licenses dendritic cells for IL-12-independent priming of type 1 T cells in vitro. Lipscomb MW, et al. J Immunol, 2009 Dec 1. PMID 19915058, Free PMC Article
    5. Elevated expression of T-bet in mycobacterial antigen-specific CD4(+) T cells from patients with tuberculosis. Yang B, et al. Cell Immunol, 2015 Nov-Dec. PMID 26302932

    See all (225) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population.
      Title: Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population.
    2. Evaluation of the presence of Th1 response through T-bet and IFN-gamma immunohistochemical expression in lower lip and oral tongue squamous cell carcinomas.
      Title: Evaluation of the presence of Th1 response through T-bet and IFN-gamma immunohistochemical expression in lower lip and oral tongue squamous cell carcinomas.
    3. TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3beta dependent manner.
      Title: TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3β dependent manner.
    4. T-BET and EOMES sustain mature human NK cell identity and antitumor function.
      Title: T-BET and EOMES sustain mature human NK cell identity and antitumor function.
    5. Expression analysis of IL-2, TBX21 and SOCS1 in peripheral blood cells of celiac disease patients reveals the diagnostic potential of IL-2.
      Title: Expression analysis of IL-2, TBX21 and SOCS1 in peripheral blood cells of celiac disease patients reveals the diagnostic potential of IL-2.
    6. Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study.
      Title: Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study.
    7. The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
      Title: The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
    8. The Th1 cell regulatory circuitry is largely conserved between human and mouse.
      Title: The Th1 cell regulatory circuitry is largely conserved between human and mouse.
    9. SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease.
      Title: SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease.
    10. T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.
      Title: T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (202)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Asthma, nasal polyps, and aspirin intolerance
    MedGen: C1859648 OMIM: 208550 GeneReviews: Not available
    		not available
    Immunodeficiency 88
    MedGen: C5562026 OMIM: 619630 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of T-bet, Eomesdermin, Blimp-1, Bcl-6, and Bcl-2 in stimulated but not in unstimulated CD8+T lymphocytes PubMed
    tat Pretreatment of THP-1 cells with HIV-1 Tat/T-bet co-cultures with CD4+T cells, resulting in increased levels of IFN-gamma PubMed
    tat HIV-1 Tat acts as a co-stimulatory molecule that affects viral replication by modulating host immune response through induction of T-bet expression and IFN-gamma secretion PubMed
    Vif vif HIV-1 Vif downregulates the expression of T-box 21 (TBX21; T-bet) in Vif-expressing T cells or during HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T-helper 1 cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lymphocyte migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lymphocyte migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of T-helper 17 cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of T-helper 2 cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of interleukin-2 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T-helper 1 cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of isotype switching to IgG isotypes IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    T-box transcription factor TBX21
    Names
    T-box 21
    T-box expressed in T cells
    T-box protein 21
    T-box transcription factor expressed in T cells
    T-cell-specific T-box transcription factor T-bet
    transcription factor TBLYM

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012166.1 RefSeqGene

      Range
      4993..17879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013351.2 → NP_037483.1  T-box transcription factor TBX21

      See identical proteins and their annotated locations for NP_037483.1

      Status: REVIEWED

      Source sequence(s)
      AC015674, AF093098
      Consensus CDS
      CCDS11514.1
      UniProtKB/Swiss-Prot
      Q9UL17
      UniProtKB/TrEMBL
      Q53EK5
      Related
      ENSP00000177694.1, ENST00000177694.2
      Conserved Domains (2) summary
      pfam16176
      Location:394 → 525
      T-box_assoc; T-box transcription factor-associated
      cd20203
      Location:136 → 326
      T-box_TBX21; DNA-binding domain of T-box transcription factor 21 and related T-box proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47733236..47746122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48595046..48607933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL17.1 GenPept UniProtKB/Swiss-Prot:Q9UL17

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools